-
1
-
-
0025766004
-
First-trimester prenatal diagnosis of hypophosphatasia: Experience with 16 cases
-
Brock, D.J.H., Barron, L. (1991). First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases, Prenat. Diagn., 11, 387-391.
-
(1991)
Prenat. Diagn.
, vol.11
, pp. 387-391
-
-
Brock, D.J.H.1
Barron, L.2
-
2
-
-
0025181430
-
Infantile hypophosphatasia: Localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers
-
Greenberg, C.R., Evans, J.A., McKendry-Smith, S., Redekopp, S., Haworth, J.C., Mulivor, R., Chodirker, B.N. (1990). Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers, Am. J. Hum. Genet., 46, 286-292.
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 286-292
-
-
Greenberg, C.R.1
Evans, J.A.2
McKendry-Smith, S.3
Redekopp, S.4
Haworth, J.C.5
Mulivor, R.6
Chodirker, B.N.7
-
3
-
-
0027337157
-
317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites
-
317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites, Genomics, 17, 215-217.
-
(1993)
Genomics
, vol.17
, pp. 215-217
-
-
Greenberg, C.R.1
Taylor, C.L.D.2
Haworth, J.C.3
Seargeant, L.E.4
Philipps, S.5
Triggs-Raine, B.6
Chodirker, B.N.7
-
4
-
-
0026713191
-
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
-
Henthorn, P.S., Raducha, M., Fedde, K.N., Lafferty, M.A., Whyte, M.P. (1992). Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia, Proc. Natl. Acad Sci. USA, 89, 9924-9928.
-
(1992)
Proc. Natl. Acad Sci. USA
, vol.89
, pp. 9924-9928
-
-
Henthorn, P.S.1
Raducha, M.2
Fedde, K.N.3
Lafferty, M.A.4
Whyte, M.P.5
-
5
-
-
85016750763
-
Simple and rapid preparation of samples for PCR
-
Erlich, H.A. (Ed.). New York: Stockton Press
-
Higuchi, R. (1989). Simple and rapid preparation of samples for PCR. In: Erlich, H.A. (Ed.). PCR Technology: Principles and Applications for DNA Amplification, New York: Stockton Press, 31-38.
-
(1989)
PCR Technology: Principles and Applications for DNA Amplification
, pp. 31-38
-
-
Higuchi, R.1
-
6
-
-
0025854361
-
Prenatal diagnosis of infantile hypophosphatasia
-
Kishi, F., Matsuura, S., Murano, I., Akita, A., Kajii, T. (1991). Prenatal diagnosis of infantile hypophosphatasia, Prenat. Diagn., 11, 305-309.
-
(1991)
Prenat. Diagn.
, vol.11
, pp. 305-309
-
-
Kishi, F.1
Matsuura, S.2
Murano, I.3
Akita, A.4
Kajii, T.5
-
7
-
-
0025820116
-
First-trimester diagnosis of hypophosphatasia. Importance of gestational age and of purity of CV samples
-
Muller, F., Oury, J.F., Bussière, P., Lewin, F., Boué, J. (1991). First-trimester diagnosis of hypophosphatasia. Importance of gestational age and of purity of CV samples, Prenat. Diagn., 11, 725-730.
-
(1991)
Prenat. Diagn.
, vol.11
, pp. 725-730
-
-
Muller, F.1
Oury, J.F.2
Bussière, P.3
Lewin, F.4
Boué, J.5
-
8
-
-
0028024690
-
Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia
-
Orimo, H., Hayashi, Z., Watanabe, A., Hirayama, T., Hirayama, T., Shimada, T. (1994). Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum. Mol. Genet., 3, 1683-1684.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1683-1684
-
-
Orimo, H.1
Hayashi, Z.2
Watanabe, A.3
Hirayama, T.4
Hirayama, T.5
Shimada, T.6
-
9
-
-
0024756969
-
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
-
Orita, M., Suzuki, Y., Sekiya, T., Hayashi, K. (1989). Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction, Genomics, 5, 874-879.
-
(1989)
Genomics
, vol.5
, pp. 874-879
-
-
Orita, M.1
Suzuki, Y.2
Sekiya, T.3
Hayashi, K.4
-
10
-
-
0023955534
-
Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34
-
Smith, M., Weiss, M.J., Griffin, C.A., Murray, J.C., Buetow, K.H., Emanuel, B.S., Henthorn, P.S., Harris, H. (1988). Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34, Genomics, 2, 139-143.
-
(1988)
Genomics
, vol.2
, pp. 139-143
-
-
Smith, M.1
Weiss, M.J.2
Griffin, C.A.3
Murray, J.C.4
Buetow, K.H.5
Emanuel, B.S.6
Henthorn, P.S.7
Harris, H.8
-
11
-
-
0022345468
-
First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase
-
Warren, R.C., McKenzie, C.F., Rodeck, C.H., Moscoso, G., Brock, D.J.H., Barren, L. (1985). First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase. Lancet, ii, 856-858.
-
(1985)
Lancet
, vol.2
, pp. 856-858
-
-
Warren, R.C.1
McKenzie, C.F.2
Rodeck, C.H.3
Moscoso, G.4
Brock, D.J.H.5
Barren, L.6
-
12
-
-
0023696449
-
Structure of the human liver/bone/kidney alkaline phosphatase gene
-
Weiss, M.J., Ray, K., Henthorn, P.S., Lamb, B., Kadesch, T., Harris, H. (1988a). Structure of the human liver/bone/kidney alkaline phosphatase gene, J. Biol. Chem., 263, 12002-12010.
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 12002-12010
-
-
Weiss, M.J.1
Ray, K.2
Henthorn, P.S.3
Lamb, B.4
Kadesch, T.5
Harris, H.6
-
13
-
-
0011322884
-
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia
-
Weiss, M.J., Cole, D.E., Ray, K., Whyte, M.P., Lafferty, M.A., Mulivor, R.A., Harris, H. (1988b). A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia, Proc. Natl. Acad. Sci. USA, 85, 7666-7669.
-
(1988)
Proc. Natl. Acad. Sci. USA
, vol.85
, pp. 7666-7669
-
-
Weiss, M.J.1
Cole, D.E.2
Ray, K.3
Whyte, M.P.4
Lafferty, M.A.5
Mulivor, R.A.6
Harris, H.7
-
14
-
-
0001594259
-
Hypophosphatasia
-
Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (Eds). New York: McGraw-Hill
-
Whyte, M.P. (1995). Hypophosphatasia. In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (Eds). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. Vol. 3, New York: McGraw-Hill, 4095-4111.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, vol.3
, pp. 4095-4111
-
-
Whyte, M.P.1
|